Masoumeh Favaedi

A homozygous missense variant in the GUCY2D gene associated with Leber congenital amaurosis in an Iranian family: molecular docking insights and genetic analysis

Leber congenital amaurosis encompasses a genetically heterogeneous spectrum of inherited retinal disorders, typically following an autosomal recessive inheritance pattern, with onset in infancy or early childhood. Several genes have been associated with LCA, including GUCY2D , wh...